Lethal neonatal spasticity, epileptic encephalopathy syndrome   1197587003

SNOMED CT code


SNOMED code1197587003
nameLethal neonatal spasticity, epileptic encephalopathy syndrome
statusactive
date introduced2022-02-28
fully specified name(s)Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)
synonyms
  • Lethal neonatal spasticity, epileptic encephalopathy syndrome
  • Lethal neonatal rigidity, multifocal seizure syndrome
attributes - group3
InterpretsMuscle tone   6918002
Has interpretationIncreased   35105006
attributes - group1
OccurrenceNeonatal   255407002
Finding siteSkeletal muscle structure   127954009
attributes - group2
OccurrenceNeonatal   255407002
Finding siteBrain structure   12738006
Pathological processPathological developmental process   308490002
attributes - group5
InterpretsMovement   255324009
attributes - group4
InterpretsMovement observable   363847004
Has interpretationAbsent   2667000
parents
  • Developmental and epileptic encephalopathy   1275631007
  • Spasticity   221360009
  • Paralytic syndrome   29426003
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of nervous system   363235000
  • Central nervous system dysfunction in newborn   37145001
  • Disorder of skeletal muscle   75047002
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Neurodevelopmental disorder   700364009
          Developmental and epileptic encephalopathy   1275631007
            Lethal neonatal spasticity, epileptic encephalopathy syndrome   1197587003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Spasticity   221360009
        Lethal neonatal spasticity, epileptic encephalopathy syndrome   1197587003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of movement   298325004
      Movement disorder   60342002
        Paralytic syndrome   29426003
          Lethal neonatal spasticity, epileptic encephalopathy syndrome   1197587003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Lethal neonatal spasticity, epileptic encephalopathy syndrome   1197587003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Lethal neonatal spasticity, epileptic encephalopathy syndrome   1197587003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Lethal neonatal spasticity, epileptic encephalopathy syndrome   1197587003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of neonate   118188004
      Neonatal disease   22925008
        Central nervous system dysfunction in newborn   37145001
          Lethal neonatal spasticity, epileptic encephalopathy syndrome   1197587003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Lethal neonatal spasticity, epileptic encephalopathy syndrome   1197587003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Lethal neonatal spasticity, epileptic encephalopathy syndrome   1197587003

ancestors
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